Varaico: Literature-Extracted Genetic Variants

Gene:SP5
Variant:p.L69F
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SP5

NM_001003845.3:p.L69F

Associated Papers

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Ouahed J et al.

Journal of Crohn's & Colitis, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."